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This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]
EFCAB9 (EF-Hand Calcium Binding Domain 9) is a Protein Coding gene. Diseases associated with EFCAB9 include Anemia, Congenital Dyserythropoietic, Type Ia. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CALM2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | ISS | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0061891 | calcium ion sensor activity | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | ISS | -- |
GO:0005929 | cilium | IEA | -- |
GO:0031514 | motile cilium | IEA | -- |
GO:0042995 | cell projection | IEA | -- |
GO:0097228 | sperm principal piece | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007283 | spermatogenesis | IEA,ISS | -- |
GO:0030317 | flagellated sperm motility | IEA,ISS | -- |
GO:0048240 | sperm capacitation | IEA,ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EFCAB9 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EFCAB9 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EFCAB9 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Efcab9 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Efcab9 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EFCAB9 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EFCAB9 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EFCAB9 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759392 | CNV | gain+loss | 17122850 |
nsv1015251 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
anemia, congenital dyserythropoietic, type ia |
|
|